RAB33B RAB33B, member RAS oncogene family
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 22 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 18 |
Likely benign | 0 | 56 |
Conflicting classifications of pathogenicity | 0 | 12 |
Uncertain significance | 0 | 160 |
Ranking
ClinVar | |
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0 |
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0 |
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22 |
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222 |
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12 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
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Target data | : |
MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | SMC2 |
MIM | 605950 OMIM |
HGNC | HGNC:16075 HGNC |
Ensembl | ENSG00000172007 Ensembl |
AllianceGenome | HGNC:16075 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000305626.6 | hg38 | chr4 | 139,454,121 | 139,476,609 | 22,489 |
ENST00000652268.1 | hg38 | chr4 | 139,453,423 | 139,475,870 | 22,448 |
ENST00000652268.1 | hg19 | chr4 | 140,374,577 | 140,397,024 | 22,448 |
ENST00000305626.6 | hg19 | chr4 | 140,375,275 | 140,397,763 | 22,489 |
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